A clinical report of the massive CAG repeat expansion in spinocerebellar ataxia type 2: Severe onset in a Mexican child and review previous cases

The spinocerebellar ataxia type 2 is a neurodegenerative disease with autosomal dominant inheritance; clinically characterized by progressive cerebellar ataxia, slow ocular saccades, nystagmus, ophthalmoplegia, dysarthria, dysphagia, cognitive deterioration, mild dementia, peripheral neuropathy. Inf...

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Detalles Bibliográficos
Autores principales: Sánchez-Corona, José, Ramirez-Garcia, Sergio Alberto, Castañeda-Cisneros, Gema, Gutiérrez-Rubio, Susan Andrea, Volpini, Víctor, Sánchez-Garcia, Diana M., García-Ortiz, José Elías, García-Cruz, Diana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2020
Materias:
Human and Medical Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7452730/
https://www.ncbi.nlm.nih.gov/pubmed/32870233
http://dx.doi.org/10.1590/1678-4685-GMB-2019-0325

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